Variant #0000784015 (NC_000014.8:g.105614753G>A, JAG2(NM_002226.4):c.2044C>T)

Individual ID 00372536
Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.105614753G>A
DNA change (hg38) g.105148416G>A
Published as -
ISCN -
DB-ID JAG2_000011 See all 3 reported entries
Variant remarks -
Reference PubMed: Coppens 2021, Journal: Coppens 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00025 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JAG2 NM_002226.4 +?/. - c.2044C>T r.(?) p.(Pro682Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373769 DNA SEQ-NG - WES JAG2 1 LOVD